Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

• Main Authors: Amjad Khan (Author), Rongrong Wang (Author), Shirui Han (Author), Muhammad Umair (Author), Safdar Abbas (Author), Muhammad Ismail Khan (Author), Mohammad A. Alshabeeb (Author), Majid Alfadhel (Author), Xue Zhang (Author)
• Format: Book
• Published: BMC, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, includin...